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Our Research Publications

Ziats CA, Jones JR, Ziats MN, Friez MJ. Alterations in respiratory epithelial gene SPDEF segregate with severe disease in a family with variable response to COVID19 infection. American College of Medical Genetics and Genomics, 2021. PMID: 8032403

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Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L. Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth Spectrum disorders. Hum Mol Genet. 2022  PMID: 36458889

 

Ziats CA, Burns WB, Tedder M, Pollard L, Wood T, and Champaigne NL. 3- methylglutaconic aciduria in carriers of primary carnitine deficiency. European Journal of  Medical Genetics. 2021, 64(12):104365. PMID: 34637945 

 

Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont B, Rogers C, Sarasua S, Nevado  J, Lucci Cordisco E, Phelan K, and Boccuto L. Neurofibromatosis type 2 in Phelan McDermid syndrome: institutional experience and review of the literature. European  Journal of Medical Genetics. 2020; 19;63(11):104042. PMID: 32822873 

 

Ziats CA, Patterson WG, and Friez M. Syndromic autism revisited: review of the literature  and lessons learned. Pediatric Neurology. 2020; 114:21-25. PMID: 33189026 

 

Pauly R, Ziats CA, Abenavoli L, Schwartz CE, Boccuto L. New Strategies for Clinical  Trials in Autism Spectrum Disorder. Reviews on Recent Clinical Trials. 2020; PMID: 33222679 

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Ziats MN, Ahmad A, Bernat JA, et al. Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. Pediatr Res. 2020 Mar;87(4):735-739. PMID: 31618753

 

Ziats CA, Stevenson RE. VACTERL with hydrocephalus. Orphanet, February 2020.  

 

Ziats CA, Schwartz CE, Field M, Shaw M, Gecz J, Stevenson RE, and Neri G. X-linked  Intellectual Disability: Phenotypic Expression in Carrier Females. Clinical Genetics. 2019; 97(3):418-425. PMID: 31705537 

 

Ziats CA, Rennert OM, Ziats MN. Toward a Pathway-Driven Clinical-Molecular Framework for Classifying Autism Spectrum Disorders. Pediatr Neurol. 2019 Sep;98:46-52. PMID: 31272785

 

Ziats CA, Grosvenor LP, Sarasua SM, Thurm AE, Swedo SE, Mahfouz A, Rennert OM, Ziats MN. Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment. PLoS ONE. 2019 14(3): e0213921. PMID: 30875393

 

Mellios N, Feldman DA, Sheridan SD, Ip JPK, Kwok S, Amoah SK, Rosen B, Rodriguez BA, Crawford B, Swaminathan R, Chou S, Li Y, Ziats M, Ernst C, Jaenisch R, Haggarty SJ, Sur M. Human cerebral organoids reveal deficits in neurogenesis and neuronal migration in MeCP2-deficient neural progenitors. Mol Psychiatry. 2018 Apr;23(4):791 PMID: 29565043

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Rennert OM, Ziats MN. Editorial: Non-Coding RNAs in Neurodevelopmental Disorders. Front Neurol. 2017;8:629. PMID: 29230193

 

Mellios N, Feldman DA, Sheridan SD, Ip JPK, Kwok S, Amoah SK, Rosen B, Rodriguez BA, Crawford B, Swaminathan R, Chou S, Li Y, Ziats M, Ernst C, Jaenisch R, Haggarty SJ, Sur M. MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling. Mol Psychiatry. 2018 Apr;23(4):1051-1065. PMID: 28439102

 

Hollon TC, Ziats CA, Sullivan S. A pineal region H3-K27M diffuse midline glioma.  Images in Neurosurgery column, Congress of Neurological Surgeons  Quarterly magazine, summer 2018.  

 

Larsen E, Menashe I, Ziats MN, Pereanu W, Packer A, Banerjee-Basu S. A Systematic Variant Annotation Approach for Ranking Genes Associated with Autism Spectrum Disorders. Mol Autism. 2016; 7:44. PMID: 27790361

 

Xiaozhuo L, Campanac E, Cheung HH, Ziats MN, Canterel-Thouennon L, Raygada M, Baxendale V, Pang AL, Yang L, Swedo SE, Thurm A, Lee TL, Fung KP, Chan WY, Hoffman D, Rennert OM. Idiopathic autism: Cellular and molecular phenotypes in pluripotent stem cell derived-neurons. Mol Neurobiol. 2016; 54(6):4507-4523. PMID: 27356918  

 

Ziats MN and Rennert OM. The evolving diagnostic and genetic landscapes of autism spectrum disorder. Front Genet. 2016; 7:65. PMID: 27200076

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Ziats MN, Goin-Kochel R, Berry L, Ali M, Ge J, Guffey D, Mokry J, Bader P, Gambello M, Wolf V, Penney L, Miller R, Lebel R, Kane J, Bachmann K, Troxell R, Clark G, Minard C, Stankiewicz P, Beaudet A, Schaaf CP.  The Complex Behavioral Phenotype of 15q13.3 Microdeletion Syndrome. Genet Med. 2016; 18(11):1111-1118. PMID: 26963284

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Edmonson CA*, Ziats MN*, Rennert OM. A non-inflammatory role for microglial in autism spectrum disorders. Front Neurol. 2016; 1;7:9. PMID: 26869989  *equal contribution

 

Ziats MN, Grosvenor LP, Rennert OM. Functional genomics of human brain development and implications for autism spectrum disorders.  Transl Psychiatry. 2015; 5:e665. PMID: 26506051

 

Mahfouz A*, Ziats MN*, Rennert OM, Lelieveldt B, Reinders M.  Shared Pathways among Autism Candidate Genes determined by Co-expression Network Analysis of the Developing Human Brain Transcriptome. J Mol Neurosci. 2015; 57(4):580-94. PMID: 26399424 *equal contribution

 

Ziats MN, Edmonson CA, and Rennert OM. The autistic brain in the context of normal neurodevelopment. Front Neuroanat. 2015; 9:115. PMID: 26379512

 

Edmonson C, Weaver KJ, Kresak JL, Pincus DW. Embryonal tumor with multilayered  rosettes of the fourth ventricle: Case Report and review of the literature. JNS: Pediatrics 2015; 7:1-5. PMID: 26252622 

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Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, and Schaaf CP. Improvement of Regressive Autism Symptoms in a Child with TMLHE Deficiency Following Carnitine Supplementation. Am J Med Genet A. 2015; 167(9): 2162-7.  PMID: 25943046.

 

Cheung HH, Liu X, Canterel-Thouennon L, Li L, Edmonson C, Rennert OM. Telomerase protects Werner Syndrome lineage-specific stem cells from premature aging.  Stem Cell Reports. 2014; 2(4):534-46. PMID: 24749076 

 

Edmonson CA*, Ziats MN*, Rennert OM. Altered glial marker expression in autistic post-mortem pre-frontal cortex and cerebellum. Mol Autism. 2014; 5(1):3. PMID: 24410870. *equal contribution

 

Ziats MN and Rennert OM.  Identification of differentially expressed microRNAs across the developing human brain. Mol Psychiatry. 2014; 19(7):848-52. PMID: 23917947.

 

Ziats MN and Rennert OM.  The Cerebellum in Autism: Pathogenic or Anatomic Beacon? Cerebellum. 2013; 12(5):776-7. PMID: 23605119.

 

Ziats MN and Rennert OM.  Sex-biased gene expression in the developing brain: implications for autism spectrum disorders.  Mol Autism. 2013; 4(1):10. PMID: 23651621.

 

Ziats MN and Rennert OM.  Aberrant expression of long non-coding RNAs in autistic brain.  J Mol Neurosci. 2013; 49(3):589–593. PMID: 22949041.

 

Lower SK, Lamlertthon S, Casillas-Ituarte NN, Lins RD, Yongsunthon R, Taylor ES,  DiBartola AC, Edmonson C, McIntyre LM, Reller LB, Que YA, Ros R, Lower BH,  Fowler VG Jr. Polymorphisms in fibronectin binding protein A of Staphylococcus  aureus are associated with infection of cardiovascular devices. Proc Natl Acad Sci USA.  2011;108(45):18372-7. PMID: 22025727 

 

Ziats MN and Rennert OM.  Expression Profiling of Autism Candidate Genes during Human Brain Development Implicates Central Immune Signaling Pathways. PLoS One. 2011; 6(9): e24691. PMID: 21935439.

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Mehlotra RK, Ziats MN, Bockaire MJ, Zimmerman PA. Prevalence of CYP2B6 alleles in malaria-endemic populations of West Africa and Papua New Guinea. Eur J Clin Pharmacol. 2006; 62(4):267-75. PMID: 16506047.

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